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Journal article

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Abstract:

BACKGROUND: A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. METHODS: We present detailed clinical characteristics of five patients with CMS caused by DPAGT1 mutations. RESULTS: Patients have prominent l...

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Publication status:
Published

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Publisher copy:
10.1136/jnnp-2012-304716

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Journal of neurology, neurosurgery, and psychiatry
Volume:
84
Issue:
10
Pages:
1119-1125
Publication date:
2013-10-05
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
URN:
uuid:3e61e611-cea5-43f8-abe1-5e4eb0cee593
Source identifiers:
387198
Local pid:
pubs:387198

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